| abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | OKDB#: 5823 |
| Symbols: | ABHD5 | Species: | human | ||
| Synonyms: | CGI58, IECN2, NCIE2 | Locus: | 3p21.33 in Homo sapiens |
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| General Comment | NCBI Summary: The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008] | ||||
| General function | Enzyme | ||||
| Comment | |||||
| Cellular localization | Cytoplasmic | ||||
| Comment | |||||
| Ovarian function | Steroid metabolism, Luteinization | ||||
| Comment | Formation and characterization of lipid droplets of the bovine corpus luteum. Talbott HA et al. (2020) Establishment and maintenance of pregnancy depends on progesterone synthesized by luteal tissue in the ovary. Our objective was to identify the characteristics of lipid droplets (LDs) in ovarian steroidogenic cells. We hypothesized that LDs are a major feature of steroidogenic luteal cells and store cholesteryl esters. Whole bovine tissues, isolated ovarian steroidogenic cells (granulosa, theca, small luteal, and large luteal), and isolated luteal LDs were assessed for LD content, LD-associated proteins and lipid analyses. Bovine luteal tissue contained abundant lipid droplets, LD-associated perilipins 2/3/5, hormone-sensitive lipase, and 1-acylglycerol-3-phosphate O-acyltransferase ABHD5. Luteal tissue was enriched in triglycerides (TGs) compared to other tissues, except for adipose tissue. Luteal cells were distinguishable from follicular cells by the presence of LDs, LD-associated proteins, and increased TGs. Furthermore, LDs from large luteal cells were numerous and small; whereas, LDs from small luteal cells were large and less numerous. Isolated LDs contained nearly all of the TGs and cholesteryl esters present in luteal tissue. Isolated luteal LDs were composed primarily of TG, with lesser amounts of cholesteryl esters, diglyceride and other phospholipids. Bovine luteal LDs are distinct from LDs in other bovine tissues, including follicular steroidogenic cells.////////////////// | ||||
| Expression regulated by | |||||
| Comment | |||||
| Ovarian localization | Luteal cells | ||||
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| Follicle stages | |||||
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| Phenotypes | |||||
| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
| Links |
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| created: | July 14, 2020, 1:39 p.m. | by: |
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| last update: | July 14, 2020, 1:41 p.m. | by: | hsueh email: |
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